PMC Articles for MedGen (Select 989040) - PMC

Select item 93020411.

Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling

Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V. Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Terese L. Katzenstein, Tania N. Masmas, Jens Lundgren, Daniel D. Murray, Marie Helleberg, Line Borgwardt

Front Immunol. 2022; 13: 906328. Published online 2022 Jun 30. doi: 10.3389/fimmu.2022.906328

PMCID:: PMC9302041

Abstract Article PDF–1.2M

Select item 89567562.

Application of array comparative genomic hybridization (aCGH) for identification of chromosomal aberrations in the recurrent pregnancy loss

Katarzyna Kowalczyk, Marta Smyk, Magdalena Bartnik-Głaska, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Joanna Bernaciak, Marta Chojnacka, Magdalena Paczkowska, Magdalena Niemiec, Daria Dutkiewicz, Agata Kozar, Róża Magdziak, Wojciech Krawczyk, Grzegorz Pietras, Elżbieta Michalak, Teresa Klepacka, Ewa Obersztyn, Jerzy Bal, Beata Anna Nowakowska

J Assist Reprod Genet. 2022 Feb; 39(2): 357–367. Published online 2022 Jan 26. doi: 10.1007/s10815-022-02400-8

PMCID:: PMC8956756

Abstract Article PDF–1.8M

Select item 83932413.

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen

Genes (Basel) 2021 Aug; 12(8): 1275. Published online 2021 Aug 20. doi: 10.3390/genes12081275

PMCID:: PMC8393241

Abstract Article PDF–602K

Select item 81977094.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A. de Man, Heidi Cope, Vandana Shashi, Undiagnosed Diseases Network, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M. van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frédéric Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M. B. H. van de Laar, Marjon A. van Slegtenhorst, Philippe M. Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J. Louie, Michael J. Lyons, Amy Dobson, Astrid S. Plomp, M. Mahdi Motazacker, Frank J. Kaiser, Andrew T. Timberlake, Sabine A. Fuchs, Christel Depienne, Cyril Mignot

Hum Genet. 2021; 140(7): 1109–1120. Published online 2021 May 4. doi: 10.1007/s00439-021-02283-2

PMCID:: PMC8197709

Abstract Article PDF–2.0M

Select item 76541715.

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher

BMC Med Genet. 2020; 21: 219. Published online 2020 Nov 10. doi: 10.1186/s12881-020-01159-y

PMCID:: PMC7654171

Abstract Article PDF–746K

Select item 63955586.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Bo Yuan, Juanita Neira, Davut Pehlivan, Teresa Santiago-Sim, Xiaofei Song, Jill Rosenfeld, Jennifer E. Posey, Vipulkumar Patel, Weihong Jin, Margaret P. Adam, Emma L. Baple, John Dean, Chin-To Fong, Scott E. Hickey, Louanne Hudgins, Eyby Leon, Suneeta Madan-Khetarpal, Lettie Rawlins, Cecilie F. Rustad, Asbjørg Stray-Pedersen, Kristian Tveten, Olivia Wenger, Jullianne Diaz, Laura Jenkins, Laura Martin, Marianne McGuire, Marguerite Pietryga, Linda Ramsdell, Leah Slattery, DDD Study, Farida Abid, Alison Bertuch, Dorothy Grange, LaDonna Immken, Christian P. Schaaf, Hilde Van Esch, Weimin Bi, Sau Wai Cheung, Amy M. Breman, Janice L. Smith, Chad Shaw, Andrew H. Crosby, Christine Eng, Yaping Yang, James R. Lupski, Rui Xiao, Pengfei Liu

Genet Med. Author manuscript; available in PMC 2019 Mar 7.

Published in final edited form as: Genet Med. 2019 Mar; 21(3): 663–675. Published online 2018 Aug 30. doi: 10.1038/s41436-018-0085-6

PMCID:: PMC6395558

Abstract Article PDF–370K

Select item 53393427.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D. Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E. Pearson

Am J Hum Genet. 2017 Mar 2; 100(3): 488–505. Published online 2017 Mar 2. doi: 10.1016/j.ajhg.2017.01.033

PMCID:: PMC5339342

Abstract Article PDF–1.6M

Select item 53334898.

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

Andrea J. Gonzalez-Mantilla, Andres Moreno-De-Luca, David H. Ledbetter, Christa Lese Martin

JAMA Psychiatry. Author manuscript; available in PMC 2017 Mar 2.

Published in final edited form as: JAMA Psychiatry. 2016 Mar; 73(3): 275–283. doi: 10.1001/jamapsychiatry.2015.2692

PMCID:: PMC5333489

Abstract Article PDF–711K

Select item 50110639.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Virpi M. Leppa, Stephanie N. Kravitz, Christa Lese Martin, Joris Andrieux, Cedric Le Caignec, Dominique Martin-Coignard, Christina DyBuncio, Stephan J. Sanders, Jennifer K. Lowe, Rita M. Cantor, Daniel H. Geschwind

Am J Hum Genet. 2016 Sep 1; 99(3): 540–554. Published online 2016 Aug 25. doi: 10.1016/j.ajhg.2016.06.036

PMCID:: PMC5011063

Abstract Article PDF–1.7M

Select item 459465010.

Sympatric ecological divergence associated with a color polymorphism

Henrik Kusche, Kathryn R. Elmer, Axel Meyer

BMC Biol. 2015; 13: 82. Published online 2015 Oct 5. doi: 10.1186/s12915-015-0192-7

PMCID:: PMC4594650

Abstract Article PDF–3.8M

Select item 394756711.

Inheritance Pattern of Beckwith–Wiedemann Syndrome Is Heterogeneous in 291 Families with an Affected Proband

Michael F. Wangler, Ping An, Andrew P. Feinberg, Michael Province, Michael R. DeBaun

Am J Med Genet A. Author manuscript; available in PMC 2014 Mar 9.

Published in final edited form as: Am J Med Genet A. 2005 Aug 15; 137(1): 16–21. doi: 10.1002/ajmg.a.30827

PMCID:: PMC3947567

Article PDF–203K

Select item 380657012.

Contribution of SNRNP200 sequence variations to retinitis pigmentosa

X Zhang, T YY Lai, S WY Chiang, P OS Tam, D TL Liu, C KM Chan, C P Pang, C Zhao, L J Chen

Eye (Lond) 2013 Oct; 27(10): 1204–1213. Published online 2013 Jul 26. doi: 10.1038/eye.2013.137

PMCID:: PMC3806570

Abstract Article PDF–2.1M

Select item 270374213.

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K. Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koen Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frederique Bena, Raoul C. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton-Smith, Ingrid Simonic, Soo Mi Park, Sarju G. Mehta, Serena Nik-Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, Santina Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John L. Tolmie, Edward S. Tobias, Chris Lilley, Lluis Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel R. Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary-Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris R. Vermeesch, John C.K. Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler

N Engl J Med. Author manuscript; available in PMC 2009 Jun 30.

Published in final edited form as: N Engl J Med. 2008 Oct 16; 359(16): 1685–1699. Published online 2008 Sep 10. doi: 10.1056/NEJMoa0805384

PMCID:: PMC2703742

Abstract Article PDF–1.0M

Select item 263348214.

Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the β-subunit of transducin with digenic disease

Yong-Qing Gao, Michael Danciger, Riza Köksal Özgül, Yekaterina E. Gribanova, Samuel G. Jacobson, Debora B. Farber

Mol Vis. 2007; 13: 287–292. Published online 2007 Feb 28.

PMCID:: PMC2633482

Abstract Article PDF–283K

Select item 236546715.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J Sharp, Heather C Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E Stevenson, Richard J Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone, Adam Broomer, Iris Casuga, Yu Wang, Chunlin Xiao, Catalin Barbacioru, Giorgio Gimelli, Bernardo Dalla Bernardina, Claudia Torniero, Roberto Giorda, Regina Regan, Victoria Murday, Sahar Mansour, Marco Fichera, Lucia Castiglia, Pinella Failla, Mario Ventura, Zhaoshi Jiang, Gregory M Cooper, Samantha JL Knight, Corrado Romano, Orsetta Zuffardi, Caifu Chen, Charles E Schwartz, Evan E Eichler

Nat Genet. Author manuscript; available in PMC 2008 Sep 1.

Published in final edited form as: Nat Genet. 2008 Mar; 40(3): 322–328. Published online 2008 Feb 17. doi: 10.1038/ng.93

PMCID:: PMC2365467

Abstract Article PDF–1.8M

Select item 942611116.

Case series: Megalopapillae in twins – Congenital or hereditary?

Somya Sharma, Karamjit Singh, Prem Pal Kaur

Indian J Ophthalmol. 2022 Jul; 70(7): 2610–2611. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_2480_21

PMCID:: PMC9426111

Abstract Article PDF–700K

Select item 792842717.

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Adam W. Hansen, Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Z. Rossetti, Joy Jayaseelan, Ingrid Cristian, Devon Haynes, Stephanie DiTroia, Naomi Meeks, Mauricio R. Delgado, Jill A. Rosenfeld, Lynn Pais, Susan M. White, Qingchang Meng, Davut Pehlivan, Pengfei Liu, Marie-Claude Gingras, Michael F. Wangler, Donna M. Muzny, James R. Lupski, Craig D. Kaplan, Richard A. Gibbs

HGG Adv. 2021 Jan 14; 2(1): 100014. Published online 2020 Nov 20. doi: 10.1016/j.xhgg.2020.100014

PMCID:: PMC7928427

Abstract Article PDF–2.1M

Select item 438429118.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Anne-Claude Tabet, Alain Verloes, Marion Pilorge, Elsa Delaby, Richard Delorme, Gudrun Nygren, Françoise Devillard, Marion Gérard, Sandrine Passemard, Delphine Héron, Jean-Pierre Siffroi, Aurelia Jacquette, Andrée Delahaye, Laurence Perrin, Céline Dupont, Azzedine Aboura, Pierre Bitoun, Mary Coleman, Marion Leboyer, Christopher Gillberg, Brigitte Benzacken, Catalina Betancur

Mol Autism. 2015; 6: 19. Published online 2015 Mar 25. doi: 10.1186/s13229-015-0015-2

PMCID:: PMC4384291

Abstract Article PDF–2.0M

Select item 375529819.

Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento

Li Ma, Xun-Lun Sheng, Hui-Ping Li, Fang-Xia Zhang, Ya-Ni Liu, Wei-Ning Rong, Jian-Ling Zhang

Int J Ophthalmol. 2013; 6(4): 430–435. Published online 2013 Aug 18. doi: 10.3980/j.issn.2222-3959.2013.04.04

PMCID:: PMC3755298

Abstract Article PDF–1.7M

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